Evidence Details for ADRBK2
Basic Information Top
| Gene Symbol: | ADRBK2 ( BARK2,GRK3 ) |
|---|---|
| Gene Full Name: | adrenergic, beta, receptor kinase 2 |
| Band: | 22q11|22q12.1 |
| Quick Links | Entrez ID:157; OMIM: 109636; Uniprot ID:ARBK2_HUMAN; ENSEMBL ID: ENSG00000100077; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ADRBK2|157|nucleotide
ATGGCGGACCTGGAGGCTGTGCTGGCCGATGTCAGTTACCTGATGGCCATGGAGAAGAGCAAGGCGACCCCGGCCGCCCGCGCCAGCAAGAGGATCGTCCTGCCG
GAGCCCAGTATCCGGAGTGTGATGCAGAAGTACCTTGCAGAGAGAAATGAAATAACCTTTGACAAGATTTTCAATCAGAAAATTGGTTTCTTGCTATTTAAAGAT
TTTTGTTTGAATGAAATTAATGAAGCTGTACCTCAGGTGAAGTTTTATGAAGAGATAAAGGAATATGAAAAACTTGATAATGAGGAAGACCGCCTTTGCAGAAGT
CGACAAATTTATGATGCCTACATCATGAAGGAACTTCTTTCCTGTTCACATCCTTTCTCAAAGCAAGCTGTAGAACACGTACAAAGTCATTTATCCAAGAAACAA
GTGACATCAACTCTTTTTCAGCCATACATAGAAGAAATTTGTGAAAGCCTTCGAGGTGACATTTTTCAAAAATTTATGGAAAGTGACAAGTTCACTAGATTTTGT
CAGTGGAAAAACGTTGAATTAAATATCCATTTGACCATGAATGAGTTCAGTGTGCATAGGATTATTGGACGAGGAGGATTCGGGGAAGTTTATGGTTGCAGGAAA
GCAGACACTGGAAAAATGTATGCAATGAAATGCTTAGATAAGAAGAGGATCAAAATGAAACAAGGAGAAACATTAGCCTTAAATGAAAGAATCATGTTGTCTCTT
GTCAGCACAGGAGACTGTCCTTTCATTGTATGTATGACCTATGCCTTCCATACCCCAGATAAACTCTGCTTCATCCTGGATCTGATGAACGGGGGCGATTTGCAC
TACCACCTTTCACAACACGGTGTGTTCTCTGAGAAGGAGATGCGGTTTTATGCCACTGAAATCATTCTGGGTCTGGAACACATGCACAATCGGTTTGTTGTCTAC
AGAGATTTGAAGCCAGCAAATATTCTCTTGGATGAACATGGACACGCAAGAATATCAGATCTTGGTCTTGCCTGCGATTTTTCCAAAAAGAAGCCTCATGCGAGT
GTTGGCACCCATGGGTACATGGCTCCCGAGGTGCTGCAGAAGGGGACGGCCTATGACAGCAGTGCCGACTGGTTCTCCCTGGGCTGCATGCTTTTCAAACTTCTG
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ATGGCGGACCTGGAGGCTGTGCTGGCCGATGTCAGTTACCTGATGGCCATGGAGAAGAGCAAGGCGACCCCGGCCGCCCGCGCCAGCAAGAGGATCGTCCTGCCG
GAGCCCAGTATCCGGAGTGTGATGCAGAAGTACCTTGCAGAGAGAAATGAAATAACCTTTGACAAGATTTTCAATCAGAAAATTGGTTTCTTGCTATTTAAAGAT
TTTTGTTTGAATGAAATTAATGAAGCTGTACCTCAGGTGAAGTTTTATGAAGAGATAAAGGAATATGAAAAACTTGATAATGAGGAAGACCGCCTTTGCAGAAGT
CGACAAATTTATGATGCCTACATCATGAAGGAACTTCTTTCCTGTTCACATCCTTTCTCAAAGCAAGCTGTAGAACACGTACAAAGTCATTTATCCAAGAAACAA
GTGACATCAACTCTTTTTCAGCCATACATAGAAGAAATTTGTGAAAGCCTTCGAGGTGACATTTTTCAAAAATTTATGGAAAGTGACAAGTTCACTAGATTTTGT
CAGTGGAAAAACGTTGAATTAAATATCCATTTGACCATGAATGAGTTCAGTGTGCATAGGATTATTGGACGAGGAGGATTCGGGGAAGTTTATGGTTGCAGGAAA
GCAGACACTGGAAAAATGTATGCAATGAAATGCTTAGATAAGAAGAGGATCAAAATGAAACAAGGAGAAACATTAGCCTTAAATGAAAGAATCATGTTGTCTCTT
GTCAGCACAGGAGACTGTCCTTTCATTGTATGTATGACCTATGCCTTCCATACCCCAGATAAACTCTGCTTCATCCTGGATCTGATGAACGGGGGCGATTTGCAC
TACCACCTTTCACAACACGGTGTGTTCTCTGAGAAGGAGATGCGGTTTTATGCCACTGAAATCATTCTGGGTCTGGAACACATGCACAATCGGTTTGTTGTCTAC
AGAGATTTGAAGCCAGCAAATATTCTCTTGGATGAACATGGACACGCAAGAATATCAGATCTTGGTCTTGCCTGCGATTTTTCCAAAAAGAAGCCTCATGCGAGT
GTTGGCACCCATGGGTACATGGCTCCCGAGGTGCTGCAGAAGGGGACGGCCTATGACAGCAGTGCCGACTGGTTCTCCCTGGGCTGCATGCTTTTCAAACTTCTG
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>ADRBK2|157|protein
MADLEAVLADVSYLMAMEKSKATPAARASKRIVLPEPSIRSVMQKYLAERNEITFDKIFNQKIGFLLFKDFCLNEINEAVPQVKFYEEIKEYEKLDNEEDRLCRS
RQIYDAYIMKELLSCSHPFSKQAVEHVQSHLSKKQVTSTLFQPYIEEICESLRGDIFQKFMESDKFTRFCQWKNVELNIHLTMNEFSVHRIIGRGGFGEVYGCRK
ADTGKMYAMKCLDKKRIKMKQGETLALNERIMLSLVSTGDCPFIVCMTYAFHTPDKLCFILDLMNGGDLHYHLSQHGVFSEKEMRFYATEIILGLEHMHNRFVVY
RDLKPANILLDEHGHARISDLGLACDFSKKKPHASVGTHGYMAPEVLQKGTAYDSSADWFSLGCMLFKLLRGHSPFRQHKTKDKHEIDRMTLTVNVELPDTFSPE
LKSLLEGLLQRDVSKRLGCHGGGSQEVKEHSFFKGVDWQHVYLQKYPPPLIPPRGEVNAADAFDIGSFDEEDTKGIKLLDCDQELYKNFPLVISERWQQEVTETV
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MADLEAVLADVSYLMAMEKSKATPAARASKRIVLPEPSIRSVMQKYLAERNEITFDKIFNQKIGFLLFKDFCLNEINEAVPQVKFYEEIKEYEKLDNEEDRLCRS
RQIYDAYIMKELLSCSHPFSKQAVEHVQSHLSKKQVTSTLFQPYIEEICESLRGDIFQKFMESDKFTRFCQWKNVELNIHLTMNEFSVHRIIGRGGFGEVYGCRK
ADTGKMYAMKCLDKKRIKMKQGETLALNERIMLSLVSTGDCPFIVCMTYAFHTPDKLCFILDLMNGGDLHYHLSQHGVFSEKEMRFYATEIILGLEHMHNRFVVY
RDLKPANILLDEHGHARISDLGLACDFSKKKPHASVGTHGYMAPEVLQKGTAYDSSADWFSLGCMLFKLLRGHSPFRQHKTKDKHEIDRMTLTVNVELPDTFSPE
LKSLLEGLLQRDVSKRLGCHGGGSQEVKEHSFFKGVDWQHVYLQKYPPPLIPPRGEVNAADAFDIGSFDEEDTKGIKLLDCDQELYKNFPLVISERWQQEVTETV
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Gregory, 2009 | USA | aCGH |  | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top